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Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.

Clinical genetics - 1 Oct 2005

Kleefstra T, Rosenberg E H, Salomons G S, Stroink H, van Bokhoven H, Hamel B C J, de Vries B B A

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PMID: 16143026
DOI: 10.1111/j.1399-0004.2005.00489.x

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